Methylation and the MTHFR gene have been making news as emerging topics in a branch of medicine called nutrigenomics, or the study of how the food and nutrients we consume influence our gene expression and play a vital role in our health.

Methylation is a key biochemical process that is essential for the proper function of almost all of the systems in the human body. It occurs billions of times every second. It is the process of adding a methyl group (composed of one carbon and three hydrogen atoms) and applying it to countless critical functions in the body. Methylation is crucial for making and maintaining DNA and influencing gene expression by switching on or off certain genes.

One of methylation’s major functions is its role in the synthesis and utilization of a host of important neurotransmitters including serotonin, epinephrine, norepinephrine, and dopamine. Methylation is also one of the primary methods of removing toxins from the body in what is called phase II liver detoxification.

A disruption in your body’s methylation cycle has been linked to the following:

  • Elevated homocysteine, which is associated with heart disease and stroke;
  • ADD, autism, bipolar and other mood disorders including depression;
  • Dementia and Alzheimer’s;
  • Osteoporosis, diabetes, cervical dysplasia and cancer, colon cancer and autoimmune conditions;
  • Chronic fatigue and fibromyalgia; decreased ability for detoxification;
  • Addictions to drugs and alcohol;
  • Frequent miscarriages, male and female infertility and frequent blood clots;
  • Birth defects, including spina bifida and cleft palate;
  • Migraines, seizure disorders, panic disorders, and insomnia; and
  • Decrease in the production and recycling of glutathione, the body’s master antioxidant.

All human beings have the same set of genes. Our differences come from the tiny variations (also called mutations) of those genes. This can influence how your body reacts to the food you eat and the environment around you. The MTHFR gene provides instructions to your body for making an enzyme called methyl-tretrahydrofolate reductase. In essence, the gene and the enzyme have the same name, MTHFR. This is the enzyme that is responsible for the process of methylation. Roughly 30-50% of us carry a mutation in the MTHFR gene which is passed down from one or both of our parents. Mutations can result in a 30-70% drop in the efficiency of the enzyme to perform its function. This can contribute to a wide range of medical problems. Although there are over fifty known MTHFR gene variants (also known as SNPs or snips), the two primary ones are called C677T and A1298.

A simple and easily performed test using your saliva can determine if you have either of these genetic variants. The 677T variant is most commonly associated with early heart disease and stroke. The 1298C variant is linked to a wide range of chronic illnesses, but either anomaly can result in health problems, especially when coupled with poor diet and lifestyle choices.

MTHFR gene mutations can severely impact how well your body metabolizes folate and folic acid. Both of these are forms of vitamin B9 which is required for numerous critical body functions.

To maximize your methylation cycle, consider the following:

  • Supplement with methylated B vitamins including L-5-MTHF 1000 mcg daily; Methylcobalamine (vitamin B12) 500 mcg up to 1 or 2 mg daily;. B6 (pyridoxyl-5-phosphate) 500 mg daily; Betaine 500 to 3000 mg daily; Glutathione support with NAC 300-600 mg daily.
  • Eat plenty of dark green leafy vegetables like raw spinach, kale, Swiss chard, asparagus, broccoli, collard, beet greens.
  • Consume oily fish (salmon, sardines), organic eggs, grass fed beef (main dietary sources of B12).
  • Avoid processed food as these are depleted of vitamins.
  • Limit caffeine and alcohol intake, which can also deplete B vitamin status and don’t smoke.
  • Minimize sugar, which can lower vitamin status.
  • Be aware that certain medications can interfere with methylation including antacids, acid blockers, proton pump inhibitors, oral contraceptives, methotrexate and corticosteroids.
  • Improve the digestion and absorption of the nutrients from your food with digestive enzymes, herbal bitters and probiotics.

For more information on MTHFR and methylation visit the National Institutes of Health website or consult your health care provider.

Dr. John Dixon can be reached at the Natural Medicine Group (760) 345.7300.   

Sources: 1) U.S. National Library of Medicine;; 2) PubMed, MTHFR search; 3)

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